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PP-053 A case with brown vialetto van laere syndrome
  1. Durmuş Bora Çağer,
  2. Melike Ersoy
  1. Dr. Sadi Konuk Eğitim ve Araştırma Hastanesi


Aim Brown Vialetto Van Laere Syndrome (BVVL) is a progressive neurological disorder that is characterized by the mutations in the riboflavin transporter genes SLC5A2 and SLC52A3. Fifty-eight cases have been demonstrated in just over 100 years. Distribution in female and male cases have been reported as 3:1 ratio (female:male). Approximately 50% of BVVL cases have been reported as a familial with an autosomal recessive inheritance, however sporadic cases have been also demonstrated. BVVL affects pontobulbar area resulting as a sensorineural deafness, respiratory difficulties, limb weakness, slurred speech, muscle weaknesses. Moreover, optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction and epilepsy may be observed as a symptom. Our patient is a 9 years old female who has a neuromotor retardation, scoliosis and difficulty in maintaining her posture. Furthermore, she is hypotonic and has both upper and lower limb muscle weakness, however lower limb muscle weakness is more prominent as she has little spontaneous movements. In addition to these symptoms, she has a hypoactive deep tendon reflexes. Aim of this case report is to identify the medical needs of the patient due to riboflavin transporter and advise a course of treatment.

Material and Method Whole Exome Sequencing genetic test was observed to identify the mutations. Electromyography was an another test to show any neuropathies. Moreover, laboratory analyses that detect the level of several acylcarnitine, hydroxy-acylcarnitine levels and riboflavin level.

Results Whole Exome Sequencing genetic test resulted in homozygote mutation at SLC5A2 gene. Electromyography shows peripheral neuropathy which supports the diagnosis. Laboratory analysis showed normal levels of several acylcarnitine and hydroxy-acylcarnitine levels. Moreover, riboflavin level was in normal range.

Conclusions The advised treatment is oral riboflavin supplementation and routine follow up will be preferred to observe improvements in fine motor skills.

  • Brown Vialetto Van Laere Syndrome

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